¿Médicos científicos en crisis? In Memoriam al Dr. Jorge Mardones Restat

Ríos, Juvenal A.; Barake, Francisca; Labbé, Tomás

doi:10.4067/s0034-98872019001001358

Cited by 1 publication

(1 citation statement)

References 3 publications

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“…In addition to the sequencing capabilities, powerful data storage and informatics units are required for constant re-analyses of growing genomic data, which are lacking in current LatAm hospitals (Step 3) (Tejerina et al, 2020). Lastly, and as part of the limited resources of the LatAm healthcare systems, there are still very few clinicians that hold a PhD or equivalent degree and training to perform/ supervise both the basic and clinical research that is required for NGDA (Coronel et al, 2011;Labbe Atenas et al, 2017;Ríos et al, 2019). Hospitals do not consider specific incentives for clinicians or healthcare workforce to perform clinical or translational research as part of their contracted duties (Step 4) (Ciocca and Delgado, 2017).…”

Section: Challengesmentioning

confidence: 99%

Discovery of novel genetic syndromes in Latin America: Opportunities and challenges

Faundes,

Repetto,

Valdivia

2024

Genet. Mol. Biol.

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Latin America (LatAm) has a rich and historically significant role in delineating both novel and well-documented genetic disorders. However, the ongoing advancements in the field of human genetics pose challenges to the relatively slow adaption of LatAm in the field. Here, we describe past and present contributions of LatAm to the discovery of novel genetic disorders, often referred as novel gene-disease associations (NGDA). We also describe the current methodologies for discovery of NGDA, taking into account the latest developments in genomics. We provide an overview of opportunities and challenges for NGDA research in LatAm considering the steps currently performed to identify and validate such associations. Given the multiple and diverse needs of populations and countries in LatAm, it is imperative to foster collaborations amongst patients, indigenous people, clinicians and scientists. Such collaborative effort is essential for sustaining and enhancing the LatAm´s contributions to the field of NGDA.

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